Identification of alkaptonuria patients in the Southern region of Alkarak governorate

العناوين الأخرى

دراسة حالات لمرضى الكبتونيوريا (التبول الأسود)‎ في جنوب محافظة الكرك

مقدم أطروحة جامعية

al-Nawayisah, Inas Tahsin Ali

مشرف أطروحة جامعية

al-Sudua, Muhammad Salim
al-Tarawinah, Khalid Ahmad

أعضاء اللجنة

al-Shakhanbah, Jumah Muti Muhammad
al-Zirini, Wail Ali Hasan
al-Zubi, Hamid Mahmud

الجامعة

جامعة مؤتة

الكلية

كلية العلوم

القسم الأكاديمي

قسم الأحياء

دولة الجامعة

الأردن

الدرجة العلمية

ماجستير

تاريخ الدرجة العلمية

2012

الملخص الإنجليزي

Alkaptonuria (AKU) is an autosomal recessive disorder caused by a deficiency of homogentisate 1,2 dioxygenase (HGO) and characterized by homogentisic aciduria, ochronosis, and ochronotic arthritis.

The defect is caused by mutations in the HGO gene, which maps to the human chromosome 3q21–q23.

AKU shows a very low prevalence (1:100,000–250,000) in most ethnic groups, but there are countries such as Slovakia and the Dominican Republic in which the incidence of this disorder rises to as much as 1:19,000.This work was conducted to identify patients with AKU in the south region of Alkarak Governorate.

Eight hundred and fifty urine samples were collected randomly from Governmental schools in Thatrass, Soul and Almazar, health care centers , Mutah university, and the community.

Urine samples were tested by adding 1 drops of Fecl3 to 3 ml urine sample, by the sample was left standing at room temperature for 48-72 hrs ,then observe the urine color turns in cases of positive results to black color due to the presence of HGA.

Screening results for AKU patients in south of alkarak showed no new cases in this region .

Our results suggest that AKU segregates in specific families.

HGA levels in urine were measured in AKU patients, carriers and healthy controls using spectrophotometric .

The range of HGA levels ranged between 0.01 mg/ml - 3.09 mg/ml in AKU patients.

Our results showed that low protein diet and vitamin C reduced the amount of excreted HGA from 15.8% to 88.3%.

Furtherer studies are still needed to find out the long-term effects of low protein diet and vitamine C on the level of HGA, sign and symptom, and complications of AKU patients.

التخصصات الرئيسية

الأحياء

عدد الصفحات

35

قائمة المحتويات

• APA
• MLA
• AMA

لغة النص

الإنجليزية

نوع البيانات

رسائل جامعية

رقم السجل

BIM-786173